Canonical Allele Identifier: CA2614496730

Gene: BBS1

Linked Data

• gnomAD v4: 11-66510768-CGGGCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510775_66510781del , CM000673.2:g.66510775_66510781del	GRCh38
NC_000011.9:g.66278246_66278252del , CM000673.1:g.66278246_66278252del	GRCh37
NC_000011.8:g.66034822_66034828del	NCBI36
NG_009093.1:g.5128_5134del
NG_032068.1:g.35367_35373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.47+69_47+75del MANE Select	ENSP00000317469.7:n.47+69_47+75del
ENST00000318312.11:c.47+69_47+75del	ENSP00000317469.7:n.47+69_47+75del
ENST00000393994.4:c.47+69_47+75del	ENSP00000377563.2:n.47+69_47+75del
ENST00000419755.3:c.159-238_159-232del	ENSP00000398526.3:n.159-238_159-232del
ENST00000455748.6:c.47+69_47+75del	ENSP00000405764.2:n.47+69_47+75del
ENST00000524907.5:n.37+69_37+75del
ENST00000525809.5:c.47+69_47+75del	ENSP00000431187.1:n.47+69_47+75del
ENST00000526035.5:c.47+69_47+75del	ENSP00000434197.1:n.47+69_47+75del
ENST00000526760.5:c.47+69_47+75del	ENSP00000432140.1:n.47+69_47+75del
ENST00000526815.5:c.-281_-275del	ENSP00000436860.1:n.-281_-275del
ENST00000527251.5:c.-281_-275del	ENSP00000434360.1:n.-281_-275del
ENST00000529766.5:n.54+69_54+75del
ENST00000529955.5:n.65+69_65+75del
ENST00000532908.5:c.47+69_47+75del	ENSP00000431866.1:n.47+69_47+75del
ENST00000533557.5:c.47+69_47+75del	ENSP00000434619.1:n.47+69_47+75del
ENST00000533644.5:c.47+69_47+75del	ENSP00000436073.1:n.47+69_47+75del
ENST00000534730.5:n.59+69_59+75del
ENST00000630659.2:c.47+69_47+75del	ENSP00000486455.1:n.47+69_47+75del
NM_024649.4:c.47+69_47+75del	NP_078925.3:n.47+69_47+75del
NM_024649.5:c.47+69_47+75del MANE Select	NP_078925.3:n.47+69_47+75del